dysmyelination Perisylvian polymicrogyria Type II lissencephaly Ankle clonus Congenital muscular dystrophy Hypoplasia of the brainstem Lissencephaly Exotropia Pachygyria
[mendelian.co]
Clinical symptoms and test results common to hypomyelination diseases Congenital cerebral hypomyelination is associated with the presentation of the following two signs:
[plaza.umin.ac.jp]
Waardenburg syndrome, and Hirschsprung disease SUMF1 Multiple sulfatase deficiency TREX1 Aicardi-Goutières syndrome, Chilblain lupus, Vasculopathy, retinal, with cerebral
[genda.com.ar]